UQCRC1基因中的蛋白质截短变异与帕金森病相关：来自五十万人的证据。
Protein-truncating variants in UQCRC1 are associated with Parkinson's disease: evidence from half-million people.
作者信息
Jing Xiaoxi, Liu Zongzhi, Li Wenwen, Ma Kaiyan, Zhang Jiaxiang, Yan Zeqi, Zhang Shuo, Lin Jiecong, Zhao Junpeng, Ong Ken K, Perry John R B, Zhao Yajie
机构信息
Changping Laboratory, Yard-28, Science Park Road, Changping District, Beijing, P. R. China.
Innovation Center for Neurological Disorders and Department of Neurology, National Clinical Research Center for Geriatric Diseases, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China.
出版信息
NPJ Parkinsons Dis. 2025 May 9;11(1):120. doi: 10.1038/s41531-025-00987-0.
Recent studies have suggested a potential but inconsistent link between UQCRC1 and Parkinson's disease (PD). For the first time, we systematically investigated the association between non-synonymous variants in UQCRC1 and PD risk using data from the UK Biobank with half-million participants, which provide evidence supporting the role of UQCRC1 Protein-truncating variants (PTVs) in PD (P = 1.20 × 10, OR = 6.59) and highlight the importance of large-scale population studies in identifying rare genetic risk factors.
最近的研究表明泛醌细胞色素c还原酶核心蛋白1（UQCRC1）与帕金森病（PD）之间可能存在联系，但这种联系并不一致。我们首次利用英国生物银行中50万参与者的数据，系统地研究了UQCRC1非同义变体与PD风险之间的关联，这些数据为支持UQCRC1蛋白截短变体（PTV）在PD中的作用提供了证据（P = 1.20×10，比值比[OR]=6.59），并突出了大规模人群研究在识别罕见遗传风险因素方面的重要性。
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